The Story of John's Life Thus Far

John Thomas was born on August 17, 2004 at the Brigham and Women’s Hospital in Boston. What was supposed to be the happiest day of our lives, rapidly turned to a day of tears. We had anticipated having a perfectly healthy “normal” baby but that quickly changed; John was born completely blue, unresponsive, and not breathing (due to his obstructive tongue that was blocking his airway through his cleft palate) and almost died. Every day we give thanks to our best friend and nurse, Beth, who was there as our labor and delivery nurse, and cleared his air passage, most likely saving his life. John survived his first day and grew stronger each day thereafter.

John was born with a very rare genetic syndrome called Toriello-Carey Syndrome along with Pierre Robin Sequence (cleft palate, small mandible and obstructive tongue), along with multiple other congenital anomalies such as a malrotated intestines (causing severe gastroesophageal reflux), hip dysplasia, hypertonia and extreme contractures of his hands and feet to the point where initially he was unable to open his hands or extend his feet, laryngomalacia and tracheomalacia, strabismus, myopia, low vision, bilateral hearing loss, small cupped low set ears, dysphagia, suck and swallow dysfunction with aspiration, hypotonia (mainly of his trunk), and a number of dysmorphia craniofacial features, all resulting from a this very rare genetic syndrome. Only approximately 45 kids worldwide have been diagnosed with this syndrome, many of which have passed away from extreme cardiac or brain defects. Fortunately for us, John does not have significant cardiac or brain defects that are life threatening; nevertheless, we still do not know John’s life expectancy or life potential since many of the children with this syndrome died at an early age. That is why we must cherish every single moment we have with him. Most of the children that have been diagnosed with Toriello-Carey Syndrome have been afflicted by some degree of mental retardation and physical handicaps, both of which have affected our sweet little boy. Despite the dismal news from many doctors of John's potential, we never give up on John and John never gives up on himself!

John was a fighter from the beginning and still continues to give us strength. Within the first few hours of John’s life, the doctors discovered his malrotated intestines, and immediately rushed him to Children’s Hospital Boston for emergency surgery. John spent the next two and a half months of his life in the neonatal ICU at Children’s Hospital Boston where he continued to fight for his life. John was aspirating everything that was fed to him and therefore required a g-tube in order to be able to intake enough food to survive. During his stay in the NICU, John underwent three additional surgeries for his respiratory issues and his gastrostomy tube, so that we could actually bring him home for the first time on October 26, 2004. John really began to thrive at home. He began to gain weight and breathe better with less blue spells but it was, and still is, a long road ahead of us.

Even after being discharged from the NICU at Children's Hospital Boston, John has continued to frequent the hospital, seeing 15 specialists and undergoing an additional 15 surgeries and procedures, for numerous things including, without limitation, the repair of his cleft palate and bilateral canalaplasty surgeries to reconstruct his ear canal, some of which resulted in lengthy hospital stays on life support and others of which were simple outpatient procedures. With each stay at Children’s Hospital Boston, John received exceptional medical care and support, and we are so thankful for that.

Instead of feeling sorry for ourselves, we focused, and still continue to focus, on each issue or obstacle as it arises and John's needs in order to grow and develop. For example, John began physical and occupational therapy treatments as early as two weeks old while still in the NICU, at which time he was fitted for braces to correct the contractures of his hands and feet. John wore those braces for 9 months straight and now has full use of his hands and feet, despite that initially John was unable to open his hands or extend his feet. From that point forward, we knew there was no limit to what John could attain.

We immediately enrolled John in early intervention services the day John came home for the first time. In addition, we attended many physical and occupational therapy sessions at Childlren's Hospital Boston, in addition, to the services provided by early intervention, as we wanted to push John to his utmost potential. With these therapy services, John really progressed in the area of gross motor, although he continues to be extremely developmentally delayed both physically and cognitively. John did not hold his head up completely independently until the age of about 10 months. At that point, he could hold it up, but it was still a bit floppy and needed some support. John began to roll over at the age of 9 months, sat up at about 14 months, and did not crawl until he was 2 years old. Shortly thereafter, at the age of 2 1/2 years old, John was able to pull himself to a stand. We thought for sure he would immediately start walking. Well...it took 2 more years until John was 4 1/2 years old, but we are the proud parents of a disabled child who is fully and independently ambulatory. It was a cold weekend in January 2008 when John was having a take home EEG test done when we had nothing else to do but work extremely hard to get John to walk and he did it! Cautiously, but he did it! From that point on, he took off with walking independently for longer and longer distances and we are so proud of him. He is still limited on the distance he can walk independently but he is doing a great job and pushes himself to the limit. John does not have the cognition to understand danger, therefore, we do still need to follow him around at all times, in particular up and down stairs which he still requires some assistance to master, but the fact that we no longer need to stroll or carry him places is incredible!

In addition to the foregoing, we also began feeding therapy with John when he was 9 months old. Even though John was fully dependent on his g-tube for nutrition and hydration, we had high hopes that maybe some day in the very distant future, John would be able to eat by mouth. Because of John's cleft palate, he lost his suck reflex when he was a week old. That coupled with his dysphagia, suck and swallow dysfunction, aspiration and severe reflux made it extremely difficult to feed him anything by mouth. Initially, he had numerous swallow studies for all types of consistencies, including pureed foods, thickened liquids and thin liquids, all of which he initially failed. Finally, around 6 months old, John passed his swallow study for pureed foods only, but not either the thick or thin liquids. At that point, we immediately signed John up for feeding therapy services with Ruth at Franciscan Children's Hospital. She was incredible with John, and quickly fell in love with him, as most therapists did. She worked really hard with John, although for us, it seemed like we were doing the same things week after week. That type of repetition, however, is how John learned best, so it worked. John really hated eating at first but we never gave up. Sometimes I felt as though we were torturing the poor kid, but I knew that once we gave up, he would absolutely never learn to eat or drink, so we continued to forge forward with feeding therapy services. Ruth also worked really hard on some drinking with John too, and finally, he passed his swallow study for thickened liquids when he was about 2 years old. John still aspirates thinner liquids but we are still working on it.

By the age of 2 years old, John’s respiratory and immune systems matured and he became increasingly stronger and able to attend social development groups. Therefore, in conjunction to the early intervention therapies John was receiving, we enrolled John into the Perkins School for the Blind in the infant-toddler program for social interaction with other children who were similar in nature to John. Through early intervention and the Perkins infant-toddler program, John had made some important developmental and social growth and has demonstrated a significant potential to learn.

After a child turns 3, they are no longer eligible for early intervention services. It becomes then up to the local school district to provide those services to a child. However, if a school district is unable to accommodate the special needs of a child, they are required to outsource those services to a school that can accommodate that child's needs. Therefore, we had to go through an individualized education plan with the Town of Dedham. Luckily, our Town agreed with our decision that the Perkins School for the Blind in the deafblind preschool program was the most appropriate educational placement for John’s needs. Although it was an extremely terrifying transition from receiving early intervention therapies at home to going to a full day preschool program, we quickly realized that John was at an amazing educational institution with not only incredible and caring special needs teachers and teachers for the visual and hearing impaired, but also with its rehabilitation, developmental, behavioral and therapy services. Every staff member at Perkins truly cares about the happiness and well being of these very fragile little children.

Initially, we sent John to school with a nurse because of his g-tube feeds and his significant gastroesophageal reflux disease with aspiration. Although John did continue to rely on his g-tube for his main source of nutrition and present with severe reflux, we quickly realized that Perkins had the ability to deal with this directly. There is a school nurse in the building that spends some time in each of the classrooms, and each of the teachers and aides are trained to administer g-tube feedings for the children. After only a few months of having nursing at school, we began using the school nurse and the trained teachers and aides to feed John and handle his reflux episodes. At that time, John’s teacher, Mary, was not only John’s amazing special needs teacher, but she played the role of John’s nurse and caregiver.

John immediately adapted to his school environment. John was extremely social and he really responded well to Perkins' teaching methods. We quickly realized that Perkins was one of a kind and is a safe and nurturing place for our little sweetheart. Not only was Perkins an amazing place in terms of its education (with the total communication approach to learning) and rehabilitation and therapy services (with Occupational, Physical and Speech Therapies, Adaptive Phys Ed, Swimming, Computer Lab, Audiology, etc.), but every staff member really cares for and nurtures their students. One clear example of this was one day in July 2008 when John had his very first grand mal seizure and it was at school. His teacher, Mary, knew John so well that she was able to catch it before it even occurred. She immediately rushed him to health services where they were able to administer oxygen and essentially save his life. We are so thankful that the staff is so in tune to the children and really focus on their every move and exactly what they need at that very moment. In addition to an incredible education, Perkins also provides an extremely tactile environment for its students, which is important for a child with low vision and hearing. More importantly, the teachers really tailor the therapies and activities to each individual student. They have the ability to obtain outside consultations for additional assistance with a particular child’s needs. This type of individualized education plan is really what has caused John to progress so much during his initial couple years at Perkins. Unfortunately, during John's third year at Perkins, something happened...he began to regress cognitively and lose skills. Perkins immediately brought in a behavioral psychologist to work with John. Simultaneously, we had John evaluated at the Developmental Medicine Clinic at Children's Hospital Boston, where they diagnosed John with ASD (autism spectrum disorder). The behavioral psychologist working with John at school agreed and recommended that John be placed in a program whose teaching model was based on ABA (applied behavioral analysis) style of teaching, which rewards good behavior/skills rather than punishing bad behavior/skills.

After looking at nearly 10 schools for John, thinking we would never find the right place for him, we finally did. And a huge thanks to our special education director in Dedham, Kathy, who came with us to each and every school visit, being extremely supportive along the way. We enrolled John in the LABBB Collaborative in Belmont through the Arlington Behavioral Intervention Program. This program not only had ABA as its main teaching model, but it also instituted direct therapies to their students. John continued with all the services he had at Perkins such as OT, Speech Therapy, PT, Aqua Therapy, Music Therapy, etc. We fell in love with John's teacher, Michelle, and her teacher assistant, Tricia, right from the beginning. They both are big believers in tough love and we absolutely agree with that method. They coddle the kids when they need it but they are strict when they need to be as well. This is really important for learning in all kids, but in particular, kids on the autism spectrum. They are absolutely incredible special education teachers and caregivers and they have gotten John to do many things we never dreamed he would do independently.

In addition to the school services that John receives, we also have initiated home ABA therapy services with John. They work on many cognitive and communication skills, as well as self help skills. Although John’s progress is still much delayed, John has really made huge gains since he started at the LABBB Collaborative and with home ABA services. Much of John's progress might seem insignificant to most parents who have typically developing children, but to us they are extensive gains. John is absolutely so much more aware of his environment and social and it is incredible. He is responding to his name and making really nice eye contact when we speak to him. John often responds in his own form of communication, whether it is pushing something away that he doesn’t want, seeking something out he does want, hitting a talking switch, or choice-making between objects. John will often times hit a switch next to our home library that has a recorded message that states "I want books", select his own book from the shelf and sit in his personal library chair waiting for someone to read to him. This is actually incredible progress for John. John is also now selecting certain pictures from his communication book and walking the picture short distances to an adult to attend to his needs. John is also using his voice a lot more; and as John's little brother, Ryan, tells his friends "my brother can't talk, but he sings". In addition to his communication accomplishments, John’s gross motor skills have grown leaps and bounds. He is able to ambulate for longer distances and we often go places with no stroller or rolling chair to assist John in that regard. John is now walking up and down stairs with minimal assistance. Furthermore, although there is still a long way to go in the area of self help, John has begun to spoon/fork feed himself with an already loaded spoon/fork, as well as assist (at varying levels) with bathing and dressing himself and brushing his teeth. John really has become familiar with the daily routines and often knows what is coming next. Probably some of John's biggest accomplishments since he started school at the LABBB Collaborative has been in the area of feeding. He started out eating strictly pureed foods and drinking absolutely nothing by mouth. Now, John does not use his g-tube at all for food, just for liquids. Not only does John eat 3 meals a day like every other child in America, but he no longer requires his foods to be pureed! He can eat a hot dog and chicken fingers like the best of them. John will try absolutely anything and eats a huge variety of food, unlike most kids his age. It is incredible. The day school asked us to send in regular food and sandwiches for lunch, we thought they were crazy (as we had been doing feeding therapy with John since he was 9 months old and had not yet graduated from pureed foods during those sessions). However, within the year, he was eating full sandwiches for lunch and no pureed foods! In addition, finally, after working on this for about 7 years, John has finally learned to drink from a straw, even liquids as thick as milkshakes!

John has made some incredible progress and we know much of that is not only due to the work of the incredible doctors, teachers, therapists, nurses, and other caregivers, but also due to the fact that we never give up on him and push him to his utmost potential in life, while of course being realistic about some of his limitations. Although we would love for John to someday speak and we will continue to work and hope for that, we understand that John may not communicate verbally; however, we at least want him to communicate with us by some other avenue. We continue to strive for more independence in the area of self help skills, with emphasis on feeding, dressing and toileting. We also continue to strive to build on John’s social interaction skills with peers and make new friends. Although we will never give up hope that John has the ability to become a fully functioning child that can lead as “normal” a life as we can provide for him, the reality is, John will most likely never live a completely independent life and we need to plan for that reality.

In addition to the therapies John received in his early years through both early intervention and at the hospitals (Children's Hospital Boston and Franciscan Children's Hospital) and which he now receives at school, we supplement those therapies with a number of other outside therapies. These include augmentative communication, occupational and physical therapies, feeding therapy, hippotherapy (horseback riding therapy), aqua therapy, craniosacral therapy, and many special needs sports programs (including baseball, soccer, basketball and dance). Many of these additional therapies are not covered by insurance, but they have helped John’s development so greatly, that we have sacrificed some of our own luxuries to give him what he needs.

Despite the very many challenges we have faced thus far with John’s birth, surgeries, development, etc., and the challenges we have ahead of us, we can’t stress to you how amazing our journey has been with him. John’s smile is infection, his belly laugh is contagious, and his hugs are amazing! John is by far the sweetest, happiest and most loving little boy we have ever met.

We are often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. Here is a poem by Emily Perl Kingsley that we have encountered that truly explains that journey and experience and puts it all into perspective:

“When you’re going to have a baby, it’s like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”

“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”

But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.

The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”

And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very very significant loss. But...if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.”
John Thomas is our "Holland" and each day, we enjoy the very special, the very lovely things about him!

I leave you with a quote from Helen Keller...the wisdom of someone who lived her entire life with special needs but who never gave up on herself!

I seldom think about my limitations, and they never make me sad. Perhaps there is just a touch of yearning at times; but it is vague, like a breeze among flowers - Helen Keller